MCID: MYP007
MIFTS: 22

Myopathy Due to Cpt Ii Deficiency malady

Genetic diseases (common) category

Summaries for Myopathy Due to Cpt Ii Deficiency

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OMIM:45 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase ii deficiency, late-onset, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including autosomal recessive inheritance, renal insufficiency and muscle weakness. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2).

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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Myopathy Due to Cpt Ii Deficiency, Aliases & Descriptions:

Name: Myopathy Due to Cpt Ii Deficiency 45 10
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 45 60
 
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 255110

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency10.5

Symptoms for Myopathy Due to Cpt Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 muscle weakness HP:0001324
4 myoglobinuria HP:0002913
5 rhabdomyolysis HP:0003201
6 myalgia HP:0003326
7 muscle cramps HP:0003394
8 muscle stiffness HP:0003552

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Drug clinical trials:

Search ClinicalTrials for Myopathy Due to Cpt Ii Deficiency

Search NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Genetic tests related to Myopathy Due to Cpt Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset22

Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

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Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

62 (show all 20)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Tyr628SerVAR_001398rs28936673
7CPT2p.Arg631CysVAR_001399
8CPT2p.Met214ThrVAR_007966
9CPT2p.Pro227LeuVAR_007967
10CPT2p.Phe448LeuVAR_007968
11CPT2p.Tyr479PheVAR_007969
12CPT2p.Arg503CysVAR_007970
13CPT2p.Gly549AspVAR_007971rs186044004
14CPT2p.Arg151GlnVAR_020540
15CPT2p.Tyr210AspVAR_020541
16CPT2p.Arg296GlnVAR_020542
17CPT2p.Gln550ArgVAR_020543
18CPT2p.Gly600ArgVAR_020544
19CPT2p.Pro604SerVAR_020545
20CPT2p.Asp213GlyVAR_037976

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
2CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
3CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
4CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
5CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
6CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
7CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
8CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
9CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Compounds for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Products for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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  • Antibodies
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Sources for Myopathy Due to Cpt Ii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet